Sarcoglycanopathy
Sarcoglycanopathy
Definition
Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.
Also known as qualitative or quantitative defects of sarcoglycan — per MONDO